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Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α‐glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also… Click to show full abstract
Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α‐glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late‐onset Pompe disease (LOPD).
Keywords:
disease;
pompe disease;
onset pompe;
macroglossia;
late onset
Journal Title: European Journal of Neurology
Year Published: 2022
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Journal Title: European Journal of Neurology
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!